Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
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Laundry and dishwasher detergent "pods" were introduced to the United States market in 2010 and are sold by several manufacturers. They represent a high percentage of household cleaning product exposure in the United Kingdom. We present a consecutive case series of 10 children seen in a 9-month period with corneal injuries from exposure to liquid detergent pods.
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We describe bilateral retinoblastoma in an 8-year-old girl presenting with macular tumor in one eye and a small peripheral tumor in the other but no detected RB1 gene mutation. Despite chemotherapy, multiple focal laser, cryotherapy, and periocular chemotherapy, tumor activity persisted and enucleation was performed. Two RB1 mutations were found in the tumor; one RB1 mutation was present in 10% of blood cells, identifying mosaicsm.
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We present a 4.8-year-old female with grade 3 lipemia retinalis due to lipoprotein lipase deficiency, an abnormal electroretinogram, and bilateral decreased visual acuity. Strict dietary intervention resulted in reversal of lipemia retinalis, normalization of her electroretinogram, and improved visual acuity in both eyes.
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Case Reports
Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome.
Joubert syndrome is a multisystem disorder that is associated with a constellation of cyclic ocular motor disturbances. We describe 2 children with congenital ocular motor apraxia who displayed wheel-rolling torsional eye movements and tonic alternating cyclodeviations of the eyes on retinal examination as a neurodiagnostic phenotype of Joubert syndrome.